P90Q (p.Pro90Gln) variant of GLG1 (Golgi apparatus protein 1)
P90Q (p.Pro90Gln) in GLG1 (Golgi apparatus protein 1) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.14 / 1. The record also includes population frequency data and structural context.
P90Q (p.Pro90Gln) variant details
- p.Pro90Gln
- TOPMed rs1486345949
- gnomAD rs1486345949
- Missense
- Variant Prioritization Score for Impact Estimate 0.143
- REVEL 0.02
- MetaLR 0.02
- MetaSVM -1.03
- CADD 10.90
- PolyPhen-2 0.00
- SIFT 0.45
- Population evidence available
- Structural context available